Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3683 | 11272;11273;11274 | chr2:178756429;178756428;178756427 | chr2:179621156;179621155;179621154 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3512 | 10759;10760;10761 | chr2:178756429;178756428;178756427 | chr2:179621156;179621155;179621154 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs2154334861  |
None | None | None | None | 0.145 | None | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85806E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3934 | ambiguous | None | None | -2.701 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.6334 | likely_pathogenic | None | None | -2.111 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.8715 | likely_pathogenic | None | None | -3.309 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.5929 | likely_pathogenic | None | None | -3.17 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.1783 | likely_benign | None | None | -1.71 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.6575 | likely_pathogenic | None | None | -3.169 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.4301 | ambiguous | None | None | -2.543 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.1142 | likely_benign | None | None | -1.371 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.5226 | ambiguous | None | None | -2.217 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.1384 | likely_benign | None | None | -1.248 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.6264 | likely_pathogenic | None | None | -2.403 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.6279 | likely_pathogenic | None | None | -1.795 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.2812 | likely_benign | None | None | -2.413 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.4026 | ambiguous | None | None | -1.694 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.4044 | ambiguous | None | None | -3.003 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.3262 | likely_benign | None | None | -2.741 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.1217 | likely_benign | None | None | -1.795 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/W | 0.3631 | ambiguous | None | None | -2.079 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.5782 | likely_pathogenic | None | None | -1.876 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.